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3.14.2013

Physician-Scientist Wins $3.1 Million Grant to Conduct Translational Research on Deafness

Ten months after receiving two five-year grants totaling $4.6 million from the National Institutes of Health to carry out gene identification and gene function studies for human hearing loss, the Miller School’s Xue Zhong Liu, M.D., Ph.D., associate professor and Director of Research at the Department of Otolaryngology, has been awarded a $3.1 million translational grant to implement genomic medicine in the clinical care of deafness, the most common sensory disorder affecting 28 million Americans.

Co-investigators on the new five-year NIH grant, which began March 8, span two UM departments and include Denise Yan, Ph.D., assistant professor of otolaryngology, Mustafa Tekin, M.D., associate professor of human genetics, and Susan H. Blanton, Ph.D., associate professor of human genetics and Executive Director of the Hussman Institute for Human Genomics.

“We’re pleased that the NIH has validated the importance of our molecular and clinical otogenetic programs,” Liu said, referring to The Miami Otogenetic Program he established with Tekin and Blanton to provide a unique platform to translate laboratory studies to the clinical care of deaf patients.

Their new grant will enable the creation of a novel Genomic Deafness Database and Personalized Sequence Profile for the clinical care of deaf patients whose data is ranked based on clinical validity and utility. Although the identification of many hearing loss genes has dramatically improved the clinical diagnosis and management of deaf and hard-of-hearing families, Liu noted, current strategies for genetic testing for deafness are inadequate because they focus only on a few of the known genes associated with deafness, often leaving the genetic cause undetermined.

“There is an urgent need to bring comprehensive genomic information of individual patients into the ‘real world’ clinical environment,’’ Liu said. “The identification of numerous genes causing nonsyndromic hearing loss, along with recent technological advances in ‘target-enrichment’ methods and next generation sequencing, is making possible molecular epidemiological studies of genetic deafness and a new wave of discoveries of the remaining genes for genetic diseases. But the translation of this knowledge to patient care is sadly lagging behind. Currently, few available databases have useful evidence-based information concerning the clinical validity and clinical utility of genetic information for the management of deaf patients.”

The Genomic Deafness Database is designed to change that, providing a unique opportunity to make genetic testing the most important diagnostic test for people with hearing loss, after a history, physical examination and audiological assessment are conducted. The Miami Otogenetic Program’s databases and DNA repository are a unique resource because of its diverse patient population, especially given that so little is known about the emergence of deafness in African Americans and recent immigrants from Latin America.

Liu and Tekin also established a multidisciplinary Genetic Hearing Loss Clinic to provide clinical and molecular diagnosis, genetic counseling and intervention options for patients, and their families, who are dealing with various types of hearing loss.

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